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Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

BACKGROUND: The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order. Congenital chromothri...

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Detalles Bibliográficos
Autores principales:	Genesio, Rita, Fontana, Paolo, Mormile, Angela, Casertano, Alberto, Falco, Mariateresa, Conti, Anna, Franzese, Adriana, Mozzillo, Enza, Nitsch, Lucio, Melis, Daniela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683855/ https://www.ncbi.nlm.nih.gov/pubmed/26689541 http://dx.doi.org/10.1186/s13039-015-0199-3

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